Can Droplet Digital™ PCR Detect 22q11.2 Deletion Syndrome?



February 21, 2017

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  • "For more info, visit Since its introduction two years ago, Droplet Digital PCR (ddPCR™) technology has transformed multiple fields of research, including infectious disease, cancer biomarker analysis, and genomic variation analysis. This video is a seminar by Vicki Hwang, a graduate student in Dr. Tassone's laboratory at UC Davis. The Tassone lab focuses on a number of neuro-developmental disorders including Autism Spectrum Disorders and 22q11.2 deletion syndrome. Vicki applied ddPCR technology to determine copy number variation (CNV) and to characterize the deletion end points fo the region of chromosome 22 that is deleted in 22q11DS. They found that ddPCR assays rapidly produced high-resolution copy number change measurements and defined the position of the deletion end points with great sensitivity and specificity. The Droplet Digital PCR system allows for the quantification of target DNA with unrivaled precision by partitioning samples into 20,000 nanoliter-sized droplets. After PCR on a thermal cycler, PCR-positive and PCR-negative droplets are counted to provide absolute quantification of the target DNA."

    Analytical Techniques

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